Gómez-Tortosa E, del Barrio Alba A, Sánchez Pernaute R, Benítez J, Barroso A, García Yébenes J
Servicios de Neurología, Fundación Jiménez Díaz, Madrid.
Neurologia. 1997 Jun-Jul;12(6):226-31.
The recent availability of a genetic analysis for the diagnosis of Huntington's disease (HD) allows now for a careful study of presymptomatic stages of the disease. The aim of this study was to see if subtle cognitive deficits could be elicited on formal neuropsychological testing in asymptomatic HD carriers. Thirty-six individuals at risk for HD, applying for genetic assessment, were studied with a cognitive protocol covering attention, memory, visuospatial and prefrontal functions. Gene IT15 analysis revealed an abnormal expansion of (CAG) trinucleotide repeats in 18 subjects, being normal in the remaining 18. The comparison of the neuropsychological performance between both groups did not show significant differences in any of the cognitive domains. These data support that there is no premorbid cognitive impairment in HD, at least recognizable with the current measures of assessment.
最近可用于诊断亨廷顿舞蹈症（HD）的基因分析，使得对该疾病症状前阶段的仔细研究成为可能。本研究的目的是观察在无症状HD携带者的正式神经心理学测试中，是否能发现细微的认知缺陷。对36名申请基因评估、有HD风险的个体进行了一项涵盖注意力、记忆力、视觉空间和前额叶功能的认知测试。基因IT15分析显示，18名受试者的（CAG）三核苷酸重复序列异常扩增，其余18名正常。两组之间神经心理学表现的比较在任何认知领域均未显示出显著差异。这些数据支持HD不存在病前认知损害，至少用目前的评估方法无法识别。
